Associated Papers
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Han ST et al.
Journal of Inherited Metabolic Disease, 2022
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M et al.
Human Mutation, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W et al.
Bmc Medical Genetics, 2019
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Musalkova D et al.
Virchows Archiv : an International Journal of Pathology, 2018
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2015
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
Olsson E et al.
Plos One, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Ornithine transcarbamylase deficiency diagnosed in pregnancy.
Celik O et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2011
Association of ornithine transcarbamylase gene polymorphisms with hypertension and coronary artery vasomotion.
Dumont J et al.
American Journal of Hypertension, 2009
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K et al.
Molecular Genetics and Metabolism, 2008
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
Dobrowolski SF et al.
Human Mutation, 2007
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Azevedo L et al.
Annals of Human Genetics, 2006
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
Yamaguchi S et al.
Human Mutation, 2006
H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
Climent C et al.
Human Mutation, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
Genet S et al.
Journal of Inherited Metabolic Disease, 2000
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Oppliger Leibundgut EO et al.
Human Mutation, 1996
Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.
García-Pérez MA et al.
Human Genetics, 1995